Phenylketonuria screening and management in southeastern Europe – survey results from 11 countries

Orphanet Journal of Rare Diseases

Tadej Battelino⁹  Natalia Usurelu^1,19  Alma Toromanovic⁴  Husref Tahirovic⁸  Radka Tincheva⁶  Biljana Suzic²  Maja Stojiljkovic^2,20  Aleksei Savov^1,11  Vladimir Sarnavka^1,13  Mira Samardzic^1,17  Michaela Nanu^1,16  Mariana Muresan^1,14  Florentina Moldovanu^1,16  Olivera Miljanovic^1,17  Otilia Margineanu³  Oana Marginean^1,15  Hajrija Maksic^1,12  Vjosa Kotori⁵  Adil Kadam⁶  Maria Ivanova^1,11  Lindita Grimci⁷  Maja Djordjevic^2,21  Ivo Baric^1,13  Dana Anton^1,10  Natalija Angelkova¹  Urh Groselj^1,18  Mojca Zerjav Tansek^1,18 

[1]University Children’s Hospital Skopje, Skopje, Macedonia

[2]Children Hospital Banja Luka, Banja Luka, Republic of Srpska, Bosnia and Herzegovina

[3]Clinica Hospital for Children “Luis Turcanu”, Timisoara, Romania

[4]Department of Pediatrics, University Clinical Center Tuzla, Tuzla, Bosnia and Herzegovina

[5]Pediatric Clinic, University Clinical Center Pristina, Pristina, Kosovo

[6]University Pediatric Hospital Sofia, Sofia, Bulgaria

[7]University Hospital Center “Mother Teresa”, Tirana, Albania

[8]Department of Medical Sciences, Academy of Sciences and Arts of Bosnia and Herzegovina, Sarajevo, Bosnia and Herzegovina

[9]Department of Pediatrics, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia

[10]Clinical Hospital for Children “Sfanta Maria”, Iasi, Romania

[11]National Genetics Laboratory, Sofia, Bulgaria

[12]University Clinical Center Sarajevo, Sarajevo, Bosnia and Herzegovina

[13]Department of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia

[14]Clinical Hospital for Children “Iuliu Hateganu”, Cluj-Napoca, Romania

[15]Clinical Hospital of Targu Mures, Targu Mures, Romania

[16]Mother and Child Health Care Institute “Alfred Rusescu”, Bucharest, Romania

[17]Institute for Sick Children, Clinical Center of Montenegro, Podgorica, Montenegro

[18]University Children’s Hospital Ljubljana, UMC Ljubljana, Ljubljana, Slovenia

[19]Institute of Mother and Child, Centre of Reproductive Health and Medical Genetics, Chisinau, Moldova

[20]Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Belgrade, Serbia

[21]Mother and Child Health Care Institute of Serbia, Belgrade, Serbia

关键词: Standards of care;    Recommendations;    Southeastern Europe;    Survey;    Management;    Screening;    Hyperphenylalaninemia;    PKU;    Phenylketonuria;   

Others  :  1219133
DOI  :  10.1186/s13023-015-0283-0

 received in 2014-12-15, accepted in 2015-05-12,  发布年份 2015

【 摘 要 】

Background

We aimed to assess the current state of PKU screening and management in the region of southeastern Europe.

Methods

A survey was performed involving all identified professionals responsible for the PKU management in the 11 countries from South-Eastern region of Europe (Albania, Bulgaria, Bosnia and Herzegovina, Croatia, Kosovo, Macedonia, Moldova, Montenegro, Romania, Serbia, Slovenia). The questionnaire was designed to assess the characteristics regarding PKU management in three main areas: nation-wide characteristics, PKU screening, and characteristics of the PKU management in the responding centre. It consisted of 56 questions. The distribution and collection of the questionnaires (via e-mail) was taking place from December 2013 to March 2014.

Results

Responses from participants from 11 countries were included; the countries cumulative population is approx. 52.5 mio. PKU screening was not yet introduced in 4 of 11 countries. Reported PKU incidences ranged from 1/7325 to 1/39338 (and were not known for 5 countries). National PKU guidelines existed in 5 of 11 countries and 7 of 11 countries had PKU registry (registries included 40 to 194 patients). The number of PKU centers in each country varied from 1 to 6. Routine genetic diagnostics was reported in 4 of 11 countries. Most commonly used laboratory method to assess phenylalanine levels was fluorometric. Tetrahydrobiopterine was used in only 2 of 11 countries. Most frequently, pediatricians were caring for the patients. Dietitian was a member of PKU team in only 4 of 11 countries, while regular psychological assessments were performed in 6 of 11 countries. Patient’s PKU society existed in 7 of 11 countries.

Conclusions

The region of southeastern Europe was facing certain important challenges of PKU screening and management. Neonatal PKU screening should be introduced throughout the region. Furthermore, PKU management was falling behind internationally established standards-of-care in many aspects.

【 授权许可】

   
2015 Tansek et al.

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